46,xx Disorder Of Sex Development-Skeletal Anomalies Syndrome

46,XX disorder of sex development-skeletal anomalies syndrome is characterised by primary amenorrhoea, ambiguous external genitalia, and bone abnormalities (hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads, etc.). It has been described in two sisters born to consanguineous parents.